Variant report

Variant	rs10418648
Chromosome Location	chr19:39529623-39529624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10418645	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10420169	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10424827	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12972850	0.82[AMR][1000 genomes]
rs1864191	0.82[ASN][1000 genomes]
rs4803188	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6508842	0.82[AMR][1000 genomes]
rs681496	0.82[ASN][1000 genomes]
rs7258862	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8104751	0.82[AMR][1000 genomes]
rs8104899	0.83[AMR][1000 genomes]
rs8105865	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10418648	FBXO27	cis	Skin Sun Exposed Lower leg	GTEx
rs10418648	CTB-189B5.3	cis	Esophagus Mucosa	GTEx
rs10418648	FBXO27	cis	Esophagus Mucosa	GTEx
rs10418648	CTB-189B5.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39523400-39535400	Weak transcription	Right Atrium	heart
2	chr19:39526800-39531400	Enhancers	Fetal Intestine Large	intestine
3	chr19:39528600-39530800	Enhancers	Fetal Intestine Small	intestine

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links